Canonical Allele Identifier: CA2818084005

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504521_45504526del , CM000683.2:g.45504521_45504526del	GRCh38
NC_000021.8:g.46924435_46924440del , CM000683.1:g.46924435_46924440del	GRCh37
NC_000021.7:g.45748863_45748868del	NCBI36
NG_011903.1:g.104330_104335del
NG_028278.2:g.63618_63623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3373_3378del (COL18A1)	ENSP00000347665.5:p.Gly1125_Pro1126del
ENST00000651438.1:c.2833_2838del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly945_Pro946del
ENST00000342220.9:c.874_879del (COL18A1)	ENSP00000339118.5:p.Gly292_Pro293del
ENST00000355480.9:c.3373_3378del (COL18A1)	ENSP00000347665.5:p.Gly1125_Pro1126del
ENST00000359759.8:c.4078_4083del (COL18A1)	ENSP00000352798.4:p.Gly1360_Pro1361del
ENST00000400337.6:c.2833_2838del (COL18A1)	ENSP00000383191.2:p.Gly945_Pro946del
ENST00000417954.5:c.498-5914_498-5909del (SLC19A1)
ENST00000567670.5:c.1294-5914_1294-5909del (SLC19A1)	ENSP00000457278.1:n.1294-5914_1294-5909del
XM_011529707.1:c.1585-1557_1585-1552del (SLC19A1)	XP_011528009.1:n.1585-1557_1585-1552del
XM_017028445.2:c.1585-1557_1585-1552del (SLC19A1)	XP_016883934.1:n.1585-1557_1585-1552del
NM_001379500.1:c.2833_2838del (COL18A1) MANE Select	NP_001366429.1:p.Gly945_Pro946del